Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis

Human Molecular Genetics

Volumn 16, Issue 7, 2007, Pages 798-807

  Gould, Douglas B ^a,d   Marchant, Jeffrey K ^c   Savinova, Olga V ^a,b,e   Smith, Richard S ^a,b   John, Simon W M ^a,b,c  

^a JACKSON LABORATORY   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA1 CHAIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ANTERIOR EYE SEGMENT DYSGENESIS; ARTICLE; BASEMENT MEMBRANE; BLINDNESS; CELL DEATH; CELL STRESS; CONTROLLED STUDY; DNA MODIFICATION; EMBRYO; ENDOPLASMIC RETICULUM STRESS; EYE MALFORMATION; GENE MUTATION; GLAUCOMA; INTRAOCULAR HYPERTENSION; INTRAOCULAR PRESSURE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; ONSET AGE; OPTIC NERVE HYPOPLASIA; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN SECRETION; RETINA GANGLION CELL; RETINA MALFORMATION;

ANIMALS; ANTERIOR EYE SEGMENT; BASEMENT MEMBRANE; COLLAGEN TYPE IV; ENDOPLASMIC RETICULUM; EYE DISEASES; IMMUNOHISTOCHEMISTRY; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MICROSCOPY, ELECTRON, TRANSMISSION; MUTATION; OPTIC NERVE;

EID: 34447336145     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm024     Document Type: Article

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